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Biomedical subjects

M Jhaveri

Publications and source records attributed to M Jhaveri.

6 recordsLinked to original sources
PubMed1997

Paternal uniparental disomy for chromosome 14: a case report and review.

Uniparental disomy (UPD) for several chromosomes has been associated with disease phenotypes. Maternal UPD for chromosome 14 has been described and has a characteristic abnormal phenotype. Paternal UPD14 is rare and only three previous cases have been reported. We describe a new case of paternal UPD for chromosome 14 in an infant with a 45,XX,der(13q;14q) karyotype, which was confirmed by molecular analysis. The proposita had findings similar to those of the previous cases of patUPD14 and we conclude that there is a characteristic patUPD14 syndrome most likely due to imprinting effects. Couples with Robertsonian translocations involving chromosome 14 should be counseled as to the possibility of UPD14 and the option of prenatal diagnosis when indicated.

Abnormalities, Multiple↗
PubMed1991

Evaluation of oxygen saturation monitoring by pulse oximetry in neonates in the delivery system.

The pulse oximeter was evaluated for use in neonates in the delivery room. One hundred neonates, delivered vaginally or by Caesarean section with general or epidural anaesthesia, were studied. After delivery, pulse oximetry probes were placed simultaneously on the ulnar side of the right hand and on the right Achilles tendon to determine whether there was a difference in arterial oxygenation (SpO2). Measurements of SpO2 were taken at 1, 5, 10 min, and 24 hr after delivery. At one and five minutes, SpO2 recorded from the right hand was higher than that recorded from the lower extremities (71.9% +/- 6.5% vs 63.4% +/- 4.3% and 83.3% +/- 4.2% vs 76% +/- 4.1%, mean +/- SD, respectively). At ten minutes these differences diminished, and had almost completely disappeared after 24 hr. These results can be explained by the presence of R-L shunting at the ductus arteriosus level, producing reduced SaO2 in the lower extremities. Oxygen saturation did not differ between neonates delivered vaginally or by Caesarean section, regardless of the presence or type of anaesthesia. We concluded that neonates remain relatively desaturated in the immediate postpartum period and that the SpO2 obtained from the right hand is a better index of neonatal oxygenation than that obtained from the heel.

Achilles Tendon↗
PubMedDate not supplied

Crossed renal ectopia associated with maternal alkaloid cocaine abuse: a case report.

Although cocaine abuse has declined in popularity in the United States, certain groups continue to use the drug at high rates. The teratogenicity of cocaine has been widely investigated in the newborn. We report a case of crossed renal ectopia in a term neonate whose mother practiced alkaloid cocaine abuse in the first trimester of pregnancy. We propose that this anomaly was caused by cocaine's direct pharmacologic effect, leading to vasoconstriction that affected the developing fetal kidney by compromising the blood vessels that supply the organ or by causing hemorrhages and infarctions with fibrosis, causing disruption during a crucial period of morphogenesis.

Abnormalities, Drug-Induced↗